Mullegama-Klein-Martinez Syndrome
Disease ID: disease_node_19231
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| Dbxref | MIM:301022 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MKMS, NEDXCF, X-linked neurodevelopmental disorder with craniofacial abnormalities |
| Doid Label | Mullegama-Klein-Martinez syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. |
| Disease Node Id | disease_node_19231 |
| Doid Id | DOID_0111845 |
| Label | Mullegama-Klein-Martinez Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)